Variant report

Variant	rs563847565
Chromosome Location	chr11:34072403-34072404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:34072350-34074205	HUVEC	blood vessel:	n/a	n/a
2	PAX5	chr11:34072369-34072929	GM12878	blood:	n/a	chr11:34072701-34072710
3	POLR2A	chr11:34072350-34075511	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:34072014-34075240	U87	brain:	n/a	n/a
5	POLR2A	chr11:34071825-34075659	GM12891	blood:	n/a	n/a
6	POLR2A	chr11:34072026-34072499	U87	brain:	n/a	n/a
7	REST	chr11:34072242-34075617	H1-neurons	neurons:	n/a	chr11:34075029-34075042 chr11:34073259-34073269 chr11:34073414-34073427 chr11:34072857-34072870 chr11:34072949-34072969 chr11:34072949-34072969
8	POLR2A	chr11:34071900-34075767	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr11:34072352-34075460	PANC-1	pancreas:	n/a	n/a
10	MXI1	chr11:34072057-34076116	SK-N-SH	brain:	n/a	n/a
11	MAZ	chr11:34072375-34076034	IMR90	lung:	n/a	chr11:34074478-34074488
12	POLR2A	chr11:34070322-34075592	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:34072365-34075348	K562	blood:	n/a	n/a
14	STAT3	chr11:34072266-34072423	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:34072026-34074165	U87	brain:	n/a	n/a
16	CUX1	chr11:34072201-34072594	K562	blood:	n/a	n/a
17	POLR2A	chr11:34072198-34075546	PFSK-1	brain:	n/a	n/a
18	MTA3	chr11:34072370-34073530	GM12878	blood:	n/a	n/a
19	HCFC1	chr11:34072225-34075832	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:34072078-34075483	PANC-1	pancreas:	n/a	n/a
21	EBF1	chr11:34072162-34072469	GM12878	blood:	n/a	chr11:34072303-34072313 chr11:34072301-34072312 chr11:34072302-34072312 chr11:34072301-34072314 chr11:34072303-34072312
22	POLR2A	chr11:34071426-34076005	K562	blood:	n/a	n/a
23	EBF1	chr11:34072126-34072488	GM12878	blood:	n/a	chr11:34072303-34072313 chr11:34072301-34072312 chr11:34072302-34072312 chr11:34072301-34072314 chr11:34072303-34072312
24	POLR2A	chr11:34072012-34075256	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34042157..34043774-chr11:34070520..34073015,2	MCF-7	breast:
2	chr11:34072129..34073643-chr11:34109400..34112113,2	MCF-7	breast:
3	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
4	chr1:149222363..149225341-chr11:34071940..34074204,2	MCF-7	breast:
5	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
6	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
7	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
8	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
9	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000166016	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34066400-34072600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34067200-34072600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:34070600-34072600	Enhancers	Placenta	Placenta
4	chr11:34071800-34072600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:34071800-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:34071800-34072800	Flanking Active TSS	K562	blood
7	chr11:34072000-34072600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:34072000-34072600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr11:34072000-34072600	Weak transcription	Aorta	Aorta
10	chr11:34072000-34072600	Enhancers	Stomach Mucosa	stomach
11	chr11:34072000-34072600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:34072000-34072800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:34072000-34072800	Flanking Active TSS	Dnd41	blood
14	chr11:34072200-34072600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:34072200-34072600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:34072200-34072600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:34072200-34072600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:34072200-34072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:34072200-34072600	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:34072200-34072600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:34072200-34072600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr11:34072200-34072800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:34072200-34072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:34072200-34072800	Flanking Active TSS	Hela-S3	cervix
27	chr11:34072200-34072800	Flanking Active TSS	HUVEC	blood vessel
28	chr11:34072200-34072800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:34072200-34072800	Flanking Active TSS	NHEK	skin
30	chr11:34072200-34073000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:34072200-34074000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:34072400-34072600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:34072400-34072600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:34072400-34072600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:34072400-34072600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:34072400-34072600	Flanking Active TSS	Liver	Liver
39	chr11:34072400-34072600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr11:34072400-34072600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr11:34072400-34072600	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr11:34072400-34072600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr11:34072400-34072600	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:34072400-34072600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr11:34072400-34072600	Flanking Active TSS	Fetal Heart	heart
46	chr11:34072400-34072600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:34072400-34072600	Flanking Active TSS	Fetal Kidney	kidney
48	chr11:34072400-34072600	Active TSS	Fetal Lung	lung
49	chr11:34072400-34072600	Flanking Active TSS	Fetal Thymus	thymus
50	chr11:34072400-34072600	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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